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SALSA MLPA KIT P147 1p36 deletions
This MLPA kit can be used to detect and characterize deletions and duplications of chromosome arm 1p36. The SALSA MLPA P147 probemix contains 36 probes in 1p36 as well as 9 control probes on other chromosomes. 18 of the 1p36 probes detect sequences located within 3.8 Mb of the p-telomere. 1p36 deletion syndrome is a chromosome disorder where the end of the short arm of one of the two chromosome 1s has been lost. The breakpoints for this cytogenetic syndrome have been variable and have ranged from bands 1p36.13 to 1p36.33. This chromosome disorder was first described in the late 1990's and early 2000's. Chromosome 1p36 deletion syndrome is also called "monosomy 1p36". Monosomy 1p36 is considered to be one of the most common chromosome terminal deletion syndromes and is a frequent cause of mental retardation. The incidence of monosomy 1p36 has been estimated to be 1 in 5,000 to 1 in 10,000 liveborn children. To date, more females than males have been reported. Duplications of part of 1p36 can be present in healthy persons ! In a healthy individual a duplication of approximately 1 Mb was detected with the P036 and P070 telomer MLPA kits which was further characterized with this P147 kit. The duplication included all probes from TNFRSF4 up to GABRD. The SCCN1D signal was increased only 1.24 times. The signal of the other 6 probes were increased at least 1.36 times (Kathleen Claes, Ghent, personal communication). Some common features of 1p36 loss are developmental delay, learning disability, hypotonia (low muscle tone), feeding difficulties, distinctive facial features, hearing loss, microcephaly, heart problems, seizures, vision defects, and a large fontanelle that is slow to close. Children with 1p36 deletion syndrome also have a problem with behavior difficulties and self-injury. It is said that children with 1p36 deletion syndrome's long-term outlook is conditional. Many children will need lifelong care. This MLPA kit is designed to detect deletions / duplications of part of 1p36. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations / polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon will therefore always require confirmation by other methods. We have no information on the percentage of defects in the genes that are caused by deletions / duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 04; 31-07-2007 Last change in probe mix content: Lot 0505 (May 2005) Current Lot Number.: Lot 0506
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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